Variant report

Variant	rs12760073
Chromosome Location	chr1:175139295-175139296
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175133817..175136820-chr1:175136859..175140006,3	K562	blood:
2	chr1:175133817..175136393-chr1:175137880..175140113,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1014554	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1014555	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10489326	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1057239	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057246	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753091	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912901	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583687	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585368	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13373754	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13374887	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883102	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1894709	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285216	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285219	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285220	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2685	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34270511	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34370567	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344281	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4650716	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6664840	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs729675	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522101	chr1:175109517-175151183	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12760073	KIAA0040	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175120000-175139400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:175124000-175140400	Weak transcription	Fetal Heart	heart
3	chr1:175126800-175141800	Strong transcription	Primary B cells from cord blood	blood
4	chr1:175126800-175148800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:175127000-175148400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:175127200-175147800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:175127400-175144200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:175127400-175149400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:175127600-175140600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:175127800-175140200	Strong transcription	Spleen	Spleen
11	chr1:175128200-175140000	Strong transcription	Primary T cells from cord blood	blood
12	chr1:175129200-175159600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:175130200-175152600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:175130400-175143400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:175135000-175152600	Weak transcription	Aorta	Aorta
16	chr1:175135000-175158400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:175135800-175140000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:175135800-175140000	Weak transcription	Esophagus	oesophagus
19	chr1:175135800-175140200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:175135800-175146000	Weak transcription	Colonic Mucosa	Colon
21	chr1:175135800-175146000	Weak transcription	Fetal Intestine Large	intestine
22	chr1:175136000-175141800	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:175136000-175142200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:175136000-175145200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:175136000-175145400	Weak transcription	Ovary	ovary
26	chr1:175136000-175151600	Weak transcription	Fetal Stomach	stomach
27	chr1:175136000-175157600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:175136200-175141800	Weak transcription	Psoas Muscle	Psoas
29	chr1:175136200-175145000	Weak transcription	Fetal Thymus	thymus
30	chr1:175136200-175146800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:175136600-175145200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:175136800-175140200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:175137400-175145400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:175137600-175140600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr1:175137800-175140200	Genic enhancers	Pancreas	Pancrea
36	chr1:175137800-175140600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:175137800-175140800	Genic enhancers	Lung	lung
38	chr1:175137800-175140800	Enhancers	Small Intestine	intestine
39	chr1:175138000-175140000	Genic enhancers	HMEC	breast
40	chr1:175138000-175140200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
41	chr1:175138000-175140400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:175138000-175140400	Genic enhancers	NHEK	skin
43	chr1:175138000-175143200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:175138000-175148000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:175138200-175139400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:175138200-175139400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr1:175138200-175139600	Enhancers	Stomach Mucosa	stomach
48	chr1:175138200-175139800	Weak transcription	Fetal Intestine Small	intestine
49	chr1:175138200-175140200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:175138400-175139400	Enhancers	Liver	Liver

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